Bruck syndrome
MONDO:0017195Mondo
Findings
No curated finding names Bruck syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.
Definition from the Mondo Disease Ontology (MONDO:0017195), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Recurrent fracturesHPOHP:0002757
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Wormian bonesHPOHP:0002645
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- PterygiumHPOHP:0001059
- Frequent (30% to 79% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- Frequent (30% to 79% of cases)
Show the remaining 3
- Bowing of the long bonesHPOHP:0006487
- Occasional (5% to 29% of cases)
- PlatyspondylyHPOHP:0000926
- Occasional (5% to 29% of cases)
- Reduced bone mineral densityMondoHP:0004349
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)
Other names
1 name
Resolves to: Bruck syndrome
- Also called
- osteogenesis imperfecta-congenital joint contractures syndrome